Jonathan’s Fight for a Cure

  • Description
  • FAQ
  • Comments
  • Supporters
Jonathan was a healthy and happy baby at birth. However, after months passed, Jonathan was not developing like a typical baby. He had very low muscle tone and was not able to sit, roll, crawl, or walk. After noticing these delays, he was tested and diagnosed with Mecp2 Duplication Syndrome, a progressive genetic disorder in which people rarely live past 25 years old due to severe respiratory issues, uncontrollable seizures, and other complications. Children with this disorder are nonverbal and most cannot walk.

While therapy can help make children with this disorder a little stronger, seizures usually take away any strength that was once gained. Many children are put on feeding tubes and seizure medications are heavily given to try to control seizures without much luck.

We've watched children deteriorate from this illness as they grow older, even starting at 5 or 6 years old. Their quality of life is taken away, and they cannot enjoy things that other children their age can enjoy. We try to give Jonathan as much as we can in terms of health, experiences, and enjoyment, but we know that this illness really has control over everything, and as he gets older, we worry what this illness will bring. No child should have to suffer from several seizures a day or weeks of hospital stays.

Doctors are working hard to find a cure, and families are working hard to fund research and trials that can ultimately reverse this disorder and allow our children to be kids and enjoy all aspects of life. Please consider making a donation, small or large, whatever you can give, so that our children have a fighting chance and can enjoy their childhood and even grow into adulthood. Every little bit is one step closer to finding a cure.

Laura & Edwin Rojas

What is MECP2 Duplication Syndrome?

Unlike Rett Syndrome, which is caused by mutations or deletions in the MECP2 gene, the symptoms that arise from the duplication syndrome are caused, as the name suggests, by having an area of the X chromosome (Xq28), which includes the MECP2 gene, erroneously duplicated. The section duplicated may vary from individual to individual and may also contribute to the severity of the disease.

The syndrome has been diagnosed mostly in boys. The majority inherits the duplication from their mothers who are typically asymptomatic due to favorable X chromosome inactivation (the moms have inactivated the X chromosome that harbors the duplication). Carrier mothers have a 50% chance of passing on the duplication to their children.

The MECP2 Duplication Syndrome may be quite prevalent. Preliminary studies suggest that 1% of cases of X-linked intellectual disability may be due to this syndrome. The core phenotypes in boys include infantile hypotonia, mild dysmorphic features, developmental delay, absent to minimal speech, recurrent infections, progressive spasticity especially of the lower limbs, ataxia, autistic features, and seizures. Females with MECP2 duplication without X chromosome inactivation skewing have been reported and present similarly to boys.

Learn more about it here.

Who is RSRT?

The Rett Syndrome Research Trust (RSRT) was launched in 2008 with a singular goal: to drive the development of treatments and cures for Rett Syndrome and related MECP2 disorders. As one of the few neurological disorders to demonstrate dramatic symptom reversal in the lab, Rett Syndrome has captured the attention of the world’s premiere university and pharmaceutical industry scientists. RSRT is operating at the nexus of this activity, leading and advancing the research agenda.

By funding the most Rett research worldwide, $35 million since 2008, we strive to put ourselves out of business as soon as possible.

Learn more about RSRT here.

Supporters (44)

  1. Kristeen Castro  
    1 year ago
    $25
  2. Anonymous 
    1 year ago
    $100
  3. Celso, Maria, Sergio, and Marcia Rojas  
    1 year ago
    $180
  4. Lindsey Mottley 
    1 year ago
    $25
  5. Rosemary Olvesen  
    1 year ago
    $25
  6. Cara O\'Donnell 
    1 year ago
    $25
  7. Panagiota Vitoroulis 
    1 year ago
    $25
  8. Rick Pacheco  
    2 years ago
    $100
  9. Adriana Angelo 
    2 years ago
    $25
  10. Jeff & Susan Lubetkin 
    2 years ago
    $25
  11. Laura Gallagher 
    2 years ago
    $50
  12. Kathleen Templeton 
    2 years ago
    $20
  13. Lisa Martins 
    2 years ago
    $50
  14. Theresa Mendoza 
    2 years ago
    $25
  15. Colleen Byrne 
    2 years ago
    $25
  16. Michael Bryson 
    2 years ago
    $100
  17. Melissa Vieira 
    2 years ago
    $100
  18. Lisa Wheelock 
    2 years ago
    $100
  19. Donna Turlik 
    2 years ago
    $50
  20. Amanda Martin  
    2 years ago
    $50
  21. Lisa Marzulla 
    2 years ago
    $25
  22. Richard Tavarez 
    2 years ago
    $50
  23. Stephen Novalany 
    2 years ago
    $50
  24. Susan Ortiz 
    2 years ago
    $25
  25. Kristine Santoro 
    2 years ago
    $50
  26. Jennifer Redgate 
    2 years ago
    $25
  27. Katherine M Brown 
    2 years ago
    $100
  28. Anjili Kinney 
    2 years ago
    $50
  29. Traci Gruning 
    2 years ago
    $25
  30. melissa destito 
    2 years ago
    $25
  31. MaryAnn Dackermann 
    2 years ago
    $100
  32. Richard Malt, Jr 
    2 years ago
    $25
  33. Claudia Dolan 
    2 years ago
    $10
  34. John Klutkowski 
    2 years ago
    $300
  35. Ann Rabouin 
    2 years ago
    $25
  36. Stefannie Buthorn 
    2 years ago
    $25
  37. Johnny Serrano 
    2 years ago
    $25
  38. Brianne Rabouin-Strasser 
    2 years ago
    $20
  39. SUSAN O\'NEILL  
    2 years ago
    $100
  40. Antonina Caruso 
    2 years ago
    $100
  41. AnneMarie Giuliani 
    2 years ago
    $50
  42. Michelle Caravella 
    2 years ago
    $100
  43. Megan Attanasio 
    2 years ago
    $25
  44. Sharon Kaye 
    2 years ago
    $100

This is a unique website which will require a more modern browser to work!

Please upgrade today!